Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Type I interferonopathies: Mendelian type I interferon up-regulation

(2015) Yanick J Crow   CURRENT OPINION IN IMMUNOLOGY

USP18 lack in microglia causes destructive interferonopathy of the mouse brain

(2015) T. Goldmann et al.   EMBO JOURNAL

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

(2015) Marije E. C. Meuwissen et al.   GENETICS IN MEDICINE

Immune-mediated viral clearance from the CNS without collateral damage

(2015) Christoph Konradt et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy

(2014) Yanick J. Crow et al.   NEW ENGLAND JOURNAL OF MEDICINE

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Aberrant fetal macrophage/microglial reactions to cytomegalovirus infection

(2014) Makiko Sakao-Suzuki et al.   Annals of Clinical and Translational Neurology

USP18 establishes the transcriptional and anti-proliferative interferon α/β differential

(2012) Véronique Francois-Newton et al.   BIOCHEMICAL JOURNAL

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS

Lymphocytic Choriomeningitis Virus: An Underrecognized Cause of Neurologic Disease in the Fetus, Child, and Adult

(2012) Daniel J. Bonthius   Seminars in Pediatric Neurology

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

(2011) Cathryn J. Poulton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NARWHAL, a primary analysis pipeline for NGS data

(2011) R. W. W. Brouwer et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Interferon-Stimulated Gene 15 and the Protein ISGylation System

(2010) Dongxian Zhang et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

(2009) S. A. Bustin et al.   CLINICAL CHEMISTRY

Fetal Infections and Brain Development

(2009) James F. Bale   CLINICS IN PERINATOLOGY

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS